The incidence of melanoma in the United States has been increasing dramatically over the past several years1 with melanoma currently being the sixth most common cancer in the United States. Despite the increasing incidence of melanoma, minimal progress has been made in the treatment of advanced stages of this disease, which is notorious for its resistance to chemotherapy and radiotherapy2. Presently there are few effective systemic therapies to treat advanced stages of melanoma and the key to improved survival in all affected individuals remains early diagnosis and treatment.
Melanoma is a disease with high metastatic potential even at very early stages of development. There is currently no simple blood test available to readily monitor disease in subjects with a history of melanoma who may be at high risk for recurrent disease or subjects who are high-risk for the development of invasive melanoma. In addition, there are no tests available for evaluation of subject tissue specimens or blood that can predict subject outcome or tumorigenic potential of pigmented lesions of unclear diagnosis.
Multiple studies have shown that there is a high rate of discordance when pathologic specimens of melanocytic lesions are reviewed by multiple pathologists. These changes in diagnosis can have implications in clinical management in up to 40% of subjects who may require further surgical procedures, adjuvant therapy or who may not have needed aggressive surgery. This underlines the need in the art of defining additional tests that may assist in making a histologic diagnosis. In addition, there is a need in the art for the identification of independent predictors of melanoma outcome to allow for identification of subjects most at-risk for developing invasive disease and therefore most in need of aggressive early treatment.
Thus, there is a need in the art for a more thorough understanding of the molecular defects associated with this malignancy and a need for accurate and early diagnosis of melanoma. In present clinical practice, for example, screening for melanoma is based on clinical examination. Current methods for detection, diagnosis, prognosis, and treatment of melanoma fails to satisfactorily reduce the morbidity associated with the disease. There is thus a need in the art for further reduction of mortality rates, and early melanoma detection in minimally invasive, cost efficient formats.